Previous HGNC Symbols for CNTN2 Gene

Previous GeneCards Identifiers for CNTN2 Gene

Summaries for CNTN2 Gene

Entrez Gene Summary for CNTN2 Gene

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

UniProtKB/Swiss-Prot for CNTN2 Gene

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.

Function for CNTN2 Gene

Products:

Molecular function for CNTN2 Gene

UniProtKB/Swiss-Prot Function:

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.

UniProtKB/Swiss-Prot

Epilepsy, familial adult myoclonic, 5 (FAME5) [MIM:615400]: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment. {ECO:0000269 PubMed:23518707}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.(PMID: 19086053)Gratacòs M … Psychiatric Genetics Network Group(American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009)34458